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https://www.readbyqxmd.com/read/29167668/a-practical-approach-to-newborn-screening-for-severe-combined-immunodeficiency-using-the-t-cell-receptor-excision-circle-assay
#1
REVIEW
Monica S Thakar, Mary K Hintermeyer, Miranda G Gries, John M Routes, James W Verbsky
Severe combined immunodeficiency (SCID) is a life-threatening condition of newborns and infants caused by defects in genes involved in T cell development. Newborn screening (NBS) for SCID using the T cell receptor excision circle (TREC) assay began in Wisconsin in 2008 and has been adopted or is being implemented by all states in 2017. It has been established that NBS using the TREC assay is extremely sensitive to detect SCID in the newborn period. Some controversies remain regarding how screening positives are handled by individual states, including when to perform confirmatory flow cytometry, what is the necessary diagnostic workup of patients, what infection prophylaxis measures should be taken, and when hematopoietic stem cell transplantation should occur...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29167666/first-year-of-israeli-newborn-screening-for-severe-combined-immunodeficiency-clinical-achievements-and-insights
#2
Erez Rechavi, Atar Lev, Amos J Simon, Tali Stauber, Suha Daas, Talia Saraf-Levy, Arnon Broides, Amit Nahum, Nufar Marcus, Suhair Hanna, Polina Stepensky, Ori Toker, Ilan Dalal, Amos Etzioni, Shlomo Almashanu, Raz Somech
Severe combined immunodeficiency (SCID), the most severe form of T cell immunodeficiency, is detectable through quantification of T cell receptor excision circles (TRECs) in dried blood spots obtained at birth. Herein, we describe the results of the first year of the Israeli SCID newborn screening (NBS) program. This important, life-saving screening test is available at no cost for every newborn in Israel. Eight SCID patients were diagnosed through the NBS program in its first year, revealing an incidence of 1:22,500 births in the Israeli population...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29163553/ppargamma-deficiency-counteracts-thymic-senescence
#3
David Ernszt, Krisztina Banfai, Zoltan Kellermayer, Attila Pap, Janet M Lord, Judit E Pongracz, Krisztian Kvell
Thymic senescence contributes to increased incidence of infection, cancer and autoimmunity at senior ages. This process manifests as adipose involution. As with other adipose tissues, thymic adipose involution is also controlled by PPARgamma. This is supported by observations reporting that systemic PPARgamma activation accelerates thymic adipose involution. Therefore, we hypothesized that decreased PPARgamma activity could prevent thymic adipose involution, although it may trigger metabolic adverse effects...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29116556/newborn-screening-for-primary-immunodeficiency-diseases-history-current-and-future-practice
#4
Jovanka R King, Lennart Hammarström
The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious sequelae. Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity. Severe combined immunodeficiency (SCID) is one form of PID which is uniformly fatal without early, definitive therapy, and outcomes are significantly improved if infants are diagnosed and treated within the first few months of life...
November 8, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29097072/recommendations-for-randomised-trials-in-surgical-oncology
#5
J C Glasbey, E L Magill, K Brock, S P Bach
Trials of surgical procedures in the treatment of malignant disease face a unique set of challenges. This review aimed to describe recommendations for the design, delivery and reporting of randomised trials in surgical oncology. A literature search was carried out without date limits to identify articles related to trial methodology research in surgery and surgical oncology. A narrative review was framed around two open National Institute of Health Research portfolio trials in colon and rectal cancer: the STAR-TREC trial (ISRCTN14240288) and the ROCCS trial (ISRCTN46330337)...
October 30, 2017: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/29061814/cycloartobiloxanthone-inhibits-migration-and-invasion-of-lung-cancer-cells
#6
Sucharat Tungsukruthai, Boonchoo Sritularak, Pithi Chanvorachote
BACKGROUND/AIM: Metastasis in lung cancer is a major cause of high mortality. Metastasis depends on the potential of cancer cells to migrate and invade. Here we demonstrated the anti-migration and invasion activities of the compound cycloartobiloxanthone from Artocarpus gomezianus Wall. ex Tréc. (Moraceae). MATERIALS AND METHODS: The effect of the compound on viability of human lung cancer H460 cells was investigated by 3-[4,5-dimethylthiazol-2-yl]-2,5diphenyl tetrazoliumbromide (MTT) assay...
November 2017: Anticancer Research
https://www.readbyqxmd.com/read/29049344/exploring-the-link-between-innate-immune-activation-and-thymic-function-by-measuring-scd14-and-trecs-in-hiv-patients-living-in-belgium
#7
Adrien De Voeght, Henri Martens, Chantal Renard, Dolores Vaira, Mathieu Debruche, Julie Simonet, Vincent Geenen, Michel Moutschen, Gilles Darcis
Microbial translocation is now viewed as a central event in the pathogenesis of chronic inflammation during HIV infection. Thymic function failure is another crucial factor involved in HIV disease progression. The goal of this study was to explore the hypothesis of potential links between microbial translocation and thymic function in HIV-1 patients living in Belgium. The extent of microbial translocation was assessed through the measurement of soluble CD14 (sCD14). T-cell receptor excision circles (sjTRECs and dβTRECs) were used as a measure of thymic function...
2017: PloS One
https://www.readbyqxmd.com/read/29045770/treatment-to-enhance-cognition-in-bipolar-disorder-trec-bd-efficacy-of-a-randomized-controlled-trial-of-cognitive-remediation-versus-active-control
#8
Kathryn E Lewandowski, Sarah H Sperry, Bruce M Cohen, Lesley A Norris, Garrett M Fitzmaurice, Dost Ongur, Matcheri S Keshavan
OBJECTIVE: Cognitive dysfunction is a core symptom dimension in bipolar disorder and a strong predictor of functional outcomes. Cognitive remediation (CR) produces moderate, durable effects on cognition in patients with schizophrenia; however, studies of CR in patients with bipolar disorder are sparse and findings have been mixed. Thus, the aim of this study was to evaluate the effects of CR versus active control in patients with bipolar disorder with psychosis. METHODS: Patients with a DSM-IV diagnosis of bipolar disorder with psychosis (n = 75) were randomized to a 70-hour computerized CR program or a dose-matched computer control using a parallel design with 1:1 allocation between July 2011 and November 2015...
October 17, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29040221/thermoeffector-responses-at-a-fixed-rate-of-heat-production-in-heart-failure-patients
#9
Bryce N Balmain, Ollie Jay, Norman R Morris, Kenji Shiino, Glenn M Stewart, Rohan Jayasinghe, Jonathan Chan, Surendran Sabapathy
PURPOSE: Heart failure (HF) patients appear to exhibit altered thermoregulatory responses during exercise in the heat. However, the extent to which these responses are altered due to physiological impairments independently of biophysical factors associated with differences in metabolic heat production (Hprod), evaporative heat balance requirements (Ereq) and/or body size, is presently unclear. Therefore, we examined thermoregulatory responses in 10 HF and 10 age-matched controls (CON) similar in body size during exercise at a fixed rate of Hprod, and therefore Ereq in a 30°C environment...
October 16, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/29030372/dose-dependent-effects-of-the-myosin-activator-omecamtiv-mecarbil-on-cross-bridge-behavior-and-force-generation-in-failing-human-myocardium
#10
Ranganath Mamidi, Jiayang Li, Kenneth S Gresham, Sujeet Verma, Chang Yoon Doh, Amy Li, Sean Lal, Cristobal G Dos Remedios, Julian E Stelzer
BACKGROUND: Omecamtiv mecarbil (OM) enhances systolic function in vivo by directly binding the myosin cross-bridges (XBs) in the sarcomere. However, the mechanistic details governing OM-induced modulation of XB behavior in failing human myocardium are unclear. METHODS AND RESULTS: The effects of OM on steady state and dynamic XB behavior were measured in chemically skinned myocardial preparations isolated from human donor and heart failure (HF) left ventricle. HF myocardium exhibited impaired contractile function as evidenced by reduced maximal force, magnitude of XB recruitment (Pdf), and a slowed rate of XB detachment (krel) at submaximal Ca(2+) activations...
October 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28991250/assessment-of-trec-krec-and-telomere-length-in-long-term-survivors-after-allogeneic-hsct-the-role-of-gvhd-and-graft-source-and-evidence-for-telomere-homeostasis-in-young-recipients
#11
A Gaballa, A Norberg, A Stikvoort, J Mattsson, B Sundberg, M Uzunel, M Remberger, M Uhlin
Reconstitution of the adaptive immune system following allogeneic hematopoietic stem cell transplantation is crucial for beneficial outcome and is affected by several factors, such as GvHD and graft source. The impact of these factors on immune reconstitution has been thoroughly investigated during the early phase after transplantation. However, little is known about their long-term effect. Similarly, leukocyte telomere length (TL) shortening has been reported shortly after transplantation. Nevertheless, whether TL shortening continues in long-term aspect is still unsettled...
October 9, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28986328/bridging-the-gap-incorporating-a-semantic-similarity-measure-for-effectively-mapping-pubmed-queries-to-documents
#12
Sun Kim, Nicolas Fiorini, W John Wilbur, Zhiyong Lu
The main approach of traditional information retrieval (IR) is to examine how many words from a query appear in a document. A drawback of this approach, however, is that it may fail to detect relevant documents where no or only few words from a query are found. The semantic analysis methods such as LSA (latent semantic analysis) and LDA (latent Dirichlet allocation) have been proposed to address the issue, but their performance is not superior compared to common IR approaches. Here we present a query-document similarity measure motivated by the Word Mover's Distance...
November 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28977313/newborn-screening-for-severe-combined-immunodeficiencies-using-trecs-and-krecs-second-pilot-study-in-brazil
#13
Marilia Pyles P Kanegae, Lucila Akune Barreiros, Jusley Lira Sousa, Marco Antônio S Brito, Edgar Borges de Oliveira, Lara Pereira Soares, Juliana Themudo L Mazzucchelli, Débora Quiorato Fernandes, Sonia Marchezi Hadachi, Silvia Maia Holanda, Flavia Alice T M Guimarães, Maura Aparecida P V V Boacnin, Marley Aparecida L Pereira, Joaquina Maria C Bueno, Anete Sevciovic Grumach, Regina Sumiko W Di Gesu, Amélia Miyashiro N Dos Santos, Newton Bellesi, Beatriz T Costa-Carvalho, Antonio Condino-Neto
OBJECTIVE: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil. METHODS: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR. The cutoff values were determined by receiver operating characteristic curve analysis using SPSS software (IBM®, Armonk, NY, USA)...
January 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28976263/physiological-and-perceptual-strain-of-firefighters-during-graded-exercise-to-exhaustion-at-40-%C3%A2-c-and-10-%C3%A2-c
#14
Erna von Heimburg, Mariann Sandsund, Tone Pedersen Rangul, Randi Eidsmo Reinertsen
PURPOSE: To study whether perceptual identification should be included as a measure to evaluate physiological stress. METHODS: Physiological variables; oxygen uptake (VO2), ventilation, heart rate (HR), blood lactate concentration, rectal temperature (Trec) and mean skin temperature (Tskin), perceptual variables; rate of perceived exertion (RPE), thermal sensation (TS) and time to exhaustion were measured at submaximal and maximal intensities during graded exercise on a treadmill to exhaustion in 12 firefighters wearing protective clothing and extra mass at 40 °C and 10 °C...
October 4, 2017: International Journal of Occupational Safety and Ergonomics: JOSE
https://www.readbyqxmd.com/read/28976005/a-comparison-of-trecs-and-flow-cytometry-for-naive-t-cell-quantification
#15
S P Adams, S Kricke, E Ralph, N Gilmour, K C Gilmour
Assessment of thymic output by measurement of naive T cells is carried out routinely in clinical diagnostic laboratories, predominantly using flow cytometry with a suitable panel of antibodies. Naive T cell measurements can also be made using molecular analyses to quantify T cell receptor excision circle (TRECs) levels in sorted cells from peripheral blood. In this study we have compared TRECs levels retrospectively with CD45RA(+) CD27(+) T cells and also with CD45RA(+) CD31(+) T cells in 134 patient samples at diagnosis or during follow-up...
October 4, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28931895/defective-thymic-output-in-was-patients-is-associated-with-abnormal-actin-organization
#16
Wenyan Li, Xiaoyu Sun, Jinzhi Wang, Qin Zhao, Rongxin Dai, Yanping Wang, Lina Zhou, Lisa Westerberg, Yuan Ding, Xiaodong Zhao, Chaohong Liu
Wiskott-Aldrich syndrome protein (WASp) is a key regulator of the actin cytoskeleton. Defective T - cell function is a major cause for immune deficiency in Wiskott-Aldrich syndrome (WAS) patients. T cells originate in the bone marrow and develop in the thymus, and then migrate to peripheral tissues. TCR excision circles (TRECs) present in thymic output cells stably, which is used as a molecular marker for thymic output. We found that CD8(+) T naïve cells of classic WAS patients were significantly reduced, and TRECs in patients with classic WAS and X-linked thrombocytopenia (XLT) dramatically decreased compared with that of HCs...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28918671/long-term-outcomes-of-severe-combined-immunodeficiency-therapy-implications
#17
Jennifer Heimall, Morton J Cowan
Newborn screening has led to a better understanding of the prevalence of Severe Combined Immunodeficiency (SCID) overall and in terms of specific genotypes. Survival has improved following hematopoietic stem cell transplantation (HCT) with the best outcomes seen following use of a matched sibling donor. However, questions remain regarding the optimal alternative donor source, appropriate use of conditioning and the impact of these decisions on immune reconstitution and other late morbidities. Areas covered: The currently available literature reporting late effects after HCT for SCID and use of alternative therapies including enzyme replacement, alternative donors and gene therapy are reviewed...
November 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28910364/surge-of-immune-cell-formation-at-birth-differs-by-mode-of-delivery-and-infant-characteristics-a-population-based-cohort-study
#18
Titus Schlinzig, Stefan Johansson, Olof Stephansson, Lennart Hammarström, Rolf H Zetterström, Ulrika von Döbeln, Sven Cnattingius, Mikael Norman
BACKGROUND: Birth by cesarean section is associated with increased risks of immune disorders. We tested whether establishment of immune function at birth relates to mode of delivery, taking other maternal and infant characteristics into account. METHODS AND FINDINGS: Using a prospectively collected database, we retrieved information on maternal and infant characteristics of 6,014 singleton infants delivered from February to April 2014 in Stockholm, Sweden, with gestational age ≥35 weeks, Apgar scores ≥7, and without congenital malformations or any neonatal morbidity...
2017: PloS One
https://www.readbyqxmd.com/read/28861919/newborn-screening-for-severe-combined-immunodeficiency-evaluation-of-a-commercial-t-cell-receptor-excision-circle-based-method-in-victorian-dried-blood-spots
#19
Stephanie Richards, James Pitt, Sharon Choo
AIM: Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency and is fatal in infancy if untreated. As early diagnosis is associated with improved outcomes, SCID is an ideal condition to consider for inclusion in a newborn screening (NBS) programme in Australia. In this feasibility study, we evaluated the EnLite Neonatal TREC kit for detection of T-cell receptor excision circles (TRECs) from NBS dried blood spots for the identification of known SCID patients in Victoria...
September 1, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28826609/a-droplet-digital-pcr-method-for-severe-combined-immunodeficiency-newborn-screening
#20
Noemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, Dimitar Gavrilov, Dietrich Matern, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Roshini S Abraham, Devin Oglesbee
Severe combined immunodeficiency (SCID) benefits from early intervention via hematopoietic cell transplantation to reverse T-cell lymphopenia (TCL). Newborn screening (NBS) programs use T-cell receptor excision circle (TREC) levels to detect SCID. Real-time quantitative PCR is often performed to quantify TRECs in dried blood spots (DBSs) for NBS. Yet, real-time quantitative PCR has inefficiencies necessitating normalization, repeat analyses, or standard curves. To address these issues, we developed a multiplex, droplet digital PCR (ddPCR) method for measuring absolute TREC amounts in one DBS punch...
September 2017: Journal of Molecular Diagnostics: JMD
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